The gene for glycogen-storage disease type 1b maps to chromosome 11q23.
Glycogen-storage disease type 1 (GSD-1), also known as "von Gierke disease," is caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. There are four distinct subgroups of this autosomal recessive disorder: 1a, 1b, 1c, and 1d. All share the same clinical manifestations, which are caused by abnormalities in the metabolism of glucose-6-phosphate (G6P). However, only GSD-1b patients suffer infectious complications, which are due to both the heritable neutropenia and the functional deficiencies of neutrophils and monocytes. Whereas G6Pase deficiency in GSD-1a patients arises from mutations in the G6Pase gene, this gene is normal in GSD-1b patients, indicating a separate locus for the disorder in the 1b subgroup. We now report the linkage of the GSD-1b locus to genetic markers spanning a 3-cM region on chromosome 11q23. Eventual molecular characterization of this disease will provide new insights into the genetic bases of G6P metabolism and neutrophil-monocyte dysfunction.
Annabi
B
B
Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
Hiraiwa
H
H
Mansfield
B C
BC
Lei
K J
KJ
Ubagai
T
T
Polymeropoulos
M H
MH
Moses
S W
SW
Parvari
R
R
Hershkovitz
E
E
Mandel
H
H
Fryman
M
M
Chou
J Y
JY
D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D003241:Consanguinity; D005006:Ethnicity; D005190:Family; D005260:Female; D005808:Genes, Recessive; D005819:Genetic Markers; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008861:Microsomes / Q000201:enzymology; D010375:Pedigree; D011110:Polymorphism, Genetic
D005819:Genetic Markers; D005952:Glucose-6-Phosphatase